No abstract available.
DNA, Mitochondrial ; Optic Atrophy, Hereditary, Leber* ; Optic Nerve Diseases*

The Leber's hereditary optic neuropathy, which affects mainly males in the late teens or in the early twenties, is a rare inherited disorder characterized by bilateral rapid loss of central vision. Leber's disease undergoes like optic neuritis in acute stage, but in late stage it results in optic atrophy with severe impairment of visual acuity and absolute central scotoma. Recently the authors have experienced two cases of Leber's optic neuropathy in a family. We observed a patient whose visual acuity of right eye was 0.8 at first examination, but reduced to 0.04 by 2 months after onset in spite of medical treatment, So we described the characteristic clinical findings of Leber's disease with brief review of the literatures.
Adolescent ; Humans ; Male ; Optic Atrophy ; Optic Atrophy, Hereditary, Leber* ; Optic Neuritis ; Scotoma ; Siblings* ; Visual Acuity

The authors have experienced with three cases of Leber's hereditary optic atrophy one family which is a relatively rare condition characterized by acute or subacute failrure of central vision presenting as a retrobulbar neuritis or optic atrophy typically inypung males in late teens or in the early twenties, though the age range is very wide. The literature relating to Leber's hereditary optic atrophy was briefly reviewed.
Adolescent ; Humans ; Male ; Optic Atrophy ; Optic Atrophy, Hereditary, Leber* ; Optic Neuritis

Leber's hereditary optic neuropathy is caused by a single nucleotide change in the mitochondrial deoxynucleic acid(mtDNA). We identified a single guanine to adenine transition mutation in the mitochondrial DNA at nucleotide position 11778(Wallace mutation)in a 13 year old boy. To our knowldge, this is the first report confirming mtDNA mutation in Korea. This would be very helpful for the correct diagnosis of optic neuritis, optic neuropathy and optic atrophy of unknown etiology as well as for genetic counselling in the future.
Adenine ; Adolescent ; Diagnosis ; DNA, Mitochondrial ; Guanine ; Humans ; Korea ; Male ; Optic Atrophy ; Optic Atrophy, Hereditary, Leber* ; Optic Nerve Diseases ; Optic Neuritis

Leber's hereditary optic neuropathy is caused by a single nucleotide change in the mitochondrial deoxynucleic acid(mtDNA) and accounts for 30% of bilateral optic atrophy of unknown etiology. The authors found 11778 mtDNA mutation in 12 patients and evaluated the clinical manifegtations. We confirmed various phenotypes exist in Leber's hereditary optic neuropathy in Korea.
DNA, Mitochondrial* ; Humans ; Korea ; Optic Atrophy ; Optic Atrophy, Hereditary, Leber* ; Phenotype

Leber's hereditary optic neuropathy(LHON) is an optic nerve disease that causes blindness and is associated with maternally inherited mitochondrial DNA(mt DNA) mutations. The most common mitochondrial DNA mutation among LHON patients is a point mutation at the nucleotide 11778 in the subunit 4 of complex I. In one 45-year old male LHON patient with bilateral optic neuropathy, we investigated the presence of a point mutation of mitochondrial DNA and identified a single guanine to adenine transition mutation in the mitochondrial DNA at nucleotide point 11778.
Adenine ; Blindness ; DNA, Mitochondrial* ; Guanine ; Humans ; Male ; Middle Aged ; Optic Atrophy, Hereditary, Leber ; Optic Nerve Diseases ; Point Mutation*

Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease causing acute or subacute, bilateral optic atrophy mainly in young men. It is found to be a mitochondrial disorder with the primary mitochondrial DNA (mtDNA) mutations at 11778, 3460, and 14484. The incidence of each mutation is reported to be race-dependent. Point mutations at mtDNA nucleotide position 11778 and 14484 have been reported in Korean patients with LHON, however there has been no report of mtDNA mutation at nucleotide position 3460. Molecular genetic analyses at four primary sites (11778, 14484, 15257, and 3460) of mitochondrial DNA using the polymerase chain reaction, restriction enzyme digestion, and direct sequencing were performed in a 35-yr-old man with severe visual loss. A point mutation in the mtDNA at nucleotide position 3460 was identified and a conversion of a single alanine to a threonine was confirmed. To our knowledge, this is the first report confirming mtDNA mutation at nucleotide position 3460 in Korean patients with LHON. Detailed molecular analyses would be very helpful for the correct diagnosis of optic neuropathy of unknown etiology and for genetic counseling.
Adult ; *DNA, Mitochondrial ; Humans ; Male ; Optic Atrophy, Hereditary, Leber/*genetics ; *Point Mutation

PURPOSE: In order to evaluate the spectrum of mitochondrial DNA (mtDNA) mutations in the patients with suspected Leber's hereditary optic neuropathy (LHON). METHODS: We investigated 14 primary mtDNA mutations at nucleotide positions (nps 3460A, 4160C, 5244A, 9101C, 9804A, 10663C, 11778A, 13730A, 14459A, 14482G, 14484C, 14495G, 14498T, and 14568T) and one common secondary mutation (np15257A) in 82 Korean patients with suspected LHON. RESULTS: Among them, only three kinds of LHON mutations were identified in 60 (73%) of 82 probands, which were comprised of 46 (56%) cases with the 11778A, 13 (16%) with the 14484C, and 1 (1%) with the 3460A. None of the other mtDNA mutations was detected. Of the 60 probands with LHON positive mutations, 19 (32%) had relevant family histories. Heteroplasmy was determined in 2 (4%) of the 46 probands with the 11778A and 1 (8%) of 13 probands with the 14484C. CONCLUSIONS: In conclusion, the 11778A was the most common cause (56%), and higher prevalence of the 14484C and the lower prevalence of the 3460A were characteristic in Korean patients with LHON. Especially, the 3460A had a remarkable racial difference compared with Caucasians. Except 3460A, 11778A, and 14484C, the other mutations screened may not be involved in pathogenesis and not have a synergistic effect on the clinical expression of LHON in Koreans.
Asian Continental Ancestry Group ; DNA, Mitochondrial* ; Humans ; Molecular Biology* ; Optic Atrophy, Hereditary, Leber* ; Prevalence

Several mtDNA mutations have been reported in Leber's hereditary optic neuropathy (LHON) associated with dystonia since it was identified as having the 14459 mutation. We report a patient with LHON and dystonia and his family. The patient presented with a slowly progressive bilateral visual loss and generalized dystonia. Brain MRI showed abnormal signal changes in both putamina. The 11778 mutation was confirmed by a Sfa I restriction digestion test. We found, in the literature, only one case of the 11778 mutation associated with dystonia, although it is one of the most common mutations in LHON. Our case suggests that the 11778 mutation should be taken into consideration in the pathogenesis of LHON associated with dystonia.
Brain ; Digestion ; DNA, Mitochondrial* ; Dystonia* ; Humans ; Magnetic Resonance Imaging ; Optic Atrophy, Hereditary, Leber*

OBJECTIVE: Mitochondrial dysfunction is a prominent and early feature of Alzheimer's disease (AD). The morphologic changes observed in the AD brain could be caused by a failure of mitochondrial fusion mechanisms. The aim of this study was to investigate whether genetic polymorphisms of two genes involved in mitochondrial fusion mechanisms, optic atrophy 1 (OPA1) and mitofusin 2 (MFN2), were associated with AD in the Korean population by analyzing genotypes and allele frequencies. METHODS: One coding single nucleotide polymorphism (SNP) in the MFN2, rs1042837, and two coding SNPs in the OPA1, rs7624750 and rs9851685, were compared between 165 patients with AD (83 men and 82 women, mean age 72.3±4.41) and 186 healthy control subjects (82 men and 104 women, mean age 76.5±5.98). RESULTS: Among these three SNPs, rs1042837 showed statistically significant differences in allele frequency, and genotype frequency in the co-dominant 1 model and in the dominant model. CONCLUSION: These results suggest that the rs1042837 polymorphism in MFN2 may be involved in the pathogenesis of AD.
Alzheimer Disease* ; Brain ; Clinical Coding ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Mitochondrial Dynamics ; Optic Atrophy, Autosomal Dominant ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide